White Rose University Consortium logo
University of Leeds logo University of Sheffield logo York University logo

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Hampshire, D.J., Roberts, E., Crow, Y., Bond, J., Mubaidin, A., Wriekat, A.L., Al-Din, A. and Woods, C.G. (2001) Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. Journal of Medical Genetics, 38 (10). pp. 680-682. ISSN 0022-2593

Full text available as:
[img]
Preview
Text
woodscg4.pdf
Available under licence : See the attached licence file.

Download (197Kb)

Abstract

Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson’s disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor- Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6. (J Med Genet 2001;38:680–682)

Item Type: Article
Copyright, Publisher and Additional Information: Copyright © 2001 by Journal of Medical Genetics.
Keywords: Kufor-Rakeb syndrome; autozygosity mapping; Parkinson’s disease; chromosome 1p36
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Genetics (Leeds)
Depositing User: Sherpa Assistant
Date Deposited: 13 Mar 2006
Last Modified: 06 Jun 2014 16:58
Published Version: http://jmg.bmjjournals.com/cgi/content/full/38/10/...
Status: Published
Refereed: Yes
Identification Number: 10.1136/jmg.38.10.680
URI: http://eprints.whiterose.ac.uk/id/eprint/250

Actions (login required)

View Item View Item